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The congenital mirror movements begin in infancy and persist throughout the patient's life, often with very little improvement, or deterioration. [3] Consequently, patients with this movement disorder have serious difficulty carrying out tasks that require manual dexterity or precision, such as playing a two handed musical instrument or typing ...
Ulnar dimelia, also referred to simply as mirror hand, is a very rare congenital disorder characterized by the absence of the radial ray, duplication of the ulna, duplication of the carpal, metacarpal, and phalanx bones, and symmetric polydactyly.
Facial synkinesis is a common sequela to Idiopathic Facial Nerve Paralysis, also called Bell's Palsy or Facial Palsy. [2] Bell's Palsy, which is thought to occur due to a viral reactivation which can lead (through unknown mechanisms) to diffuse axon demyelination and degeneration of the seventh cranial nerve, results in a hemifacial paralysis due to non-functionality of the nerve.
Movement disorders are clinical syndromes with either an excess of movement or a paucity of voluntary and involuntary movements, unrelated to weakness or spasticity. [1] Movement disorders present with extrapyramidal symptoms and are caused by basal ganglia disease . [ 2 ]
Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus ...
Congenital limb deformities are congenital musculoskeletal disorders which primarily affect the upper and lower limbs. An example is polydactyly , where a foot or hand has more than 5 digits. Clubfoot , one of the most common congenital deformities of the lower limbs, occurs approximately 1 in 1000 births.
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
Acheiropodia was first described in Brazil in 1929 [4] and the variations in expression (the range in severity and type of signs and symptoms experienced by patients), namely the presence or absence of digits on upper limbs or the Bohomeletz bone (a small, elongated bone located at the upper limb tips, parallel to the humerus and suggested to be what would have developed into the ulna), were ...